Varaico: Literature-Extracted Genetic Variants

Gene:RP1L1
Variant:p.P73S
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RP1L1

NM_178857.6:p.P73S

Associated Papers

Research progress of RP1L1 gene in disease.

Liu J et al.

Gene, 2024

CCNF (Cyclin F) as a Candidate Gene for Familial Hodgkin Lymphoma: Additional Evidence for the Importance of Mitotic Checkpoint Defects in Tumorigenesis.

Khoury E et al.

Hemasphere, 2023

38026792 (PubMed )
Supplement: hs9-7-e985-s001.xlsx › Suppl_Table_S5

Neurodegenerative VPS41 variants inhibit HOPS function and mTORC1-dependent TFEB/TFE3 regulation.

van der Welle REN et al.

Embo Molecular Medicine, 2021

33851776 (PubMed )
Supplement: EMMM-13-e13258-s002.zip › Dataset_EV1.xlsx › Sheet1

Exomes of Ductal Luminal Breast Cancer Patients from Southwest Colombia: Gene Mutational Profile and Related Expression Alterations.

Cortes-Urrea C et al.

Biomolecules, 2020

32365829 (PubMed )
Supplement: biomolecules-10-00698-s001.zip › Article-to-BIOMOLECULES_R1_v4Apr2020 › CortesUrreaetal_R1_Supp_Table_S2_339SNPs.xlsx › Tab_S2_339_SNPs_440_alterations

Clinical and Genetic Characteristics of Chinese Patients with Occult Macular Dystrophy.

Wang DD et al.

Investigative Ophthalmology & Visual Science, 2020

32176261 (PubMed )
Supplement: iovs-61-3-10_s002.xlsx › Sheet_1

Clinical and Genetic Characteristics of East Asian Patients with Occult Macular Dystrophy (Miyake Disease): East Asia Occult Macular Dystrophy Studies Report Number 1.

Fujinami K et al.

Ophthalmology, 2019

PRIMA-1MET-induced neuroblastoma cell death is modulated by p53 and mycn through glutathione level.

Mlakar V et al.

Journal of Experimental & Clinical Cancer Research : Cr, 2019

30755224 (PubMed )
Supplement: 13046_2019_1066_MOESM1_ESM.xlsx › CHP212

ERG and OCT findings of a patient with a clinical diagnosis of occult macular dystrophy in a patient of Ashkenazi Jewish descent associated with a novel mutation in the gene encoding RP1L1.

Saffra N et al.

Bmj Case Reports, 2017

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."